This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Gly162_Gly184delinsValSerThrAlaAlaPheLeuSerSerGlyGlyAlaMetAlaLysTrpThrAlaThrThrAlaGlnThr;Asp186_Cys190delinsLysAlaVal;Lys193Arg]
CA2499225307
ENST00000252444.10:c.485_491del